Variant information


Systematic Name
(NM_004992.3:)		 c.905C>G
Protein name
(NP_004983)		 p.Pro302Arg
Alternate systematic Name
(NM_001110792.1:)		 c.941C>G
Alternate Protein name
(NP_001104262)		 p.(Pro314Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296374G>C
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.905C>G p.Pro302Arg Female Rett syndrome-Not certain 11 :Bunyan, D.:: View details
2 c.905C>G p.Pro302Arg Female Rett syndrome-Not certain 26 :Bunyan, D.:: View details
3 c.905C>G p.Pro302Arg Unknown Rett syndrome-Not certain 232 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 View details
4 c.905C>G p.Pro302Arg Unknown Rett syndrome-Not certain 233 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 View details
5 c.905C>G p.Pro302Arg Female Rett syndrome-Classical 938 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 View details
6 c.905C>G p.Pro302Arg Female Rett syndrome-Not certain 1171 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 View details
7 c.905C>G p.Pro302Arg Unknown Rett syndrome-Not certain 1302 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 View details
8 c.905C>G p.Pro302Arg Unknown Rett syndrome-Not certain 1303 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 View details
9 c.905C>G p.Pro302Arg Female Rett syndrome-Not certain 2175 :Cardiff, UK:: View details
10 c.905C>G p.Pro302Arg Female Rett syndrome-Not certain 2176 :Cardiff, UK:: View details
11 c.905C>G p.Pro302Arg Female Rett syndrome-Classical 2450 ::: View details
12 c.905C>G p.Pro302Arg Female Rett syndrome-Classical 2466 ::: View details
13 c.905C>G p.Pro302Arg Female Rett syndrome-classical 3398 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 View details
14 c.905C>G p.Pro302Arg Female Rett syndrome-classical 3678 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 View details
15 c.905C>G p.Pro302Arg Female Rett syndrome-not certain 4920 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 View details
16 c.905C>G p.Pro302Arg Female Rett syndrome-classical 7036 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775 View details